ORPHA:656912

Autosomal dominant combined immunodeficiency due to ERBIN deficiency

Synonyms: AD-CID due to ERBIN deficiency · Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Autosomal dominant combined immunodeficiency due to ERBIN deficiency	AD-CID due to ERBIN deficiency · Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency
fr	Déficit immunitaire combiné autosomique dominant par déficit en ERBIN	CID autosomique dominante par déficit en ERBIN · DIC autosomique dominant par déficit en ERBIN · Déficit immunitaire combiné autosomique dominant par déficit en erbb2 interacting protein · Immunodéficience combinée autosomique dominante par défict en ERBIN
de	Kombinierter Immundefekt, autosomal-dominanter, durch ERBIN-Mangel	Autosomal-dominanter kombinierter Immundefekt aufgrund eines Mangels an erbb2-interagierendem Protein · CID durch ERBIN-Defizienz
es	Inmunodeficiencia combinada autosómica dominante por deficiencia de ERBIN	IDC AD por deficiencia de ERBIN · Inmunodeficiencia combinada autosómica dominante por deficiencia de la proteína de interacción erbB2
it	Immunodeficienza combinata autosomica dominante da deficit di ERBIN	CID AD da deficit di ERBIN · Immunodeficienza combinata autosomica dominante da deficit della proteina che interagisce con erbb2
nl	Autosomaal dominante gecombineerde immuundeficiëntie door ERBIN-deficiëntie	AD CID door ERBIN-deficiëntie · Autosomaal dominante gecombineerde immuundeficiëntie door deficiëntie van erbb2-interactieproteïne
pt	Imunodeficiência combinada autossómica dominante devida a deficiência de ERBIN	AD-CID devido a deficiência ERBIN · Imunodeficiência combinada autossómica dominante devida a deficiência de proteína de interação erbb2
pl	Autosomalny dominujący złożony niedobór odporności z niedoborem ERBIN	= en
cs	Autozomálně dominantní kombinovaná imunodeficience způsobená ERBIN deficitem	= en
uk	Аутосомно-домінантний комбінований імунодефіцит, зумовлений дефіцитом ERBIN	АД КІД через дефіцит ERBIN · Аутосомно-домінантний комбінований імунодефіцит, зумовлений дефіцитом білка, що взаємодіє з erbb2

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	D82.4	NTBT	attributed	validated
MONDO	0958120	E		validated
MONDO	958120	E		validated
UMLS	C5925110	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98004Rare immune disease

Parents in the classifications (3):

ORPHA:183494Genetic immune deficiency with skin involvement
rare genetic diseases
ORPHA:331223Hyper-IgE syndrome
rare genetic diseases; rare immunological diseases
ORPHA:79391Immune deficiency with skin involvement
rare skin diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ERBIN	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:15842	ENSG00000112851	606944	5q12.3	erbb2 interacting protein	28126831[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/656912
This record as JSON: /data/d/656912.json